骨髓增生异常综合征伴获得性α地中海贫血中X连锁α地中海贫血伴智力障碍基因突变的研究进展

Ressearch progress of α-Thalassemia mental retardation X-linked gene mutation of acquired α-Thalassemia myelodystic syndrome

α地中海贫血多由第16号染色体异常引起的遗传性疾病，在恶性血液肿瘤疾病中，尤其是骨髓增生异常综合征（MDS），发现α地中海贫血可作为获得性疾病出现，称为骨髓增生异常综合征伴获得性α-地中海贫血（ATMDS），其机制与体细胞发生X连锁α地中海贫血伴智力障碍（ATRX）基因突变相关。越来越多的研究结果表明ATRX基因编码产物可作为反式作用因子可调节α珠蛋白表达。通过对ATRX蛋白功能的分析，从染色质重塑、调控基因表达等分子机制阐明ATRX基因、ATRX蛋白、α珠蛋白在ATMDS发生、发展中的内在联系，有助于在分子机制水平阐释ATMDS临床表现。

Alpha-thalassemia is a common inherited form of anemia that usually results from dysfunction of the chromosome 16. Acquired alpha-thalassevaia associated with somatic mutation in alpha- thalassemia mental retardation X-linked （ATRX） gene has been found in patients who develop neoplastic myeloid disorders, especially myelodystic syndrome （MDS）. So it is called acquired alpha-thalassemia myelodystic syndrome（ATMDS）. A majority of researches suggested the protein encoded by ATRX gene functions as a trans-acting factor regulates expression of α-globin. Summarizing studies on function of ATRX protein, such as chromatin remodeler and gene regulation,we elucidate the association among ATRX gene, ATRX protein and α-globin in the development of ATMDS. It helps us explain ATMDS symptoms in terms of molecular mechanisms.